Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

doi:10.1136/jmedgenet-2018-105441

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Article

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Journal of medical genetics - 1 Nov 2018

Milev Miroslav P, Graziano Claudio, Karall Daniela, Kuper Willemijn F E, Al-Deri Noraldin, Cordelli Duccio Maria, Haack Tobias B, Danhauser Katharina, Iuso Arcangela, Palombo Flavia, Pippucci Tommaso, Prokisch Holger, Saint-Dic Djenann, Seri Marco, Stanga Daniela, Cenacchi Giovanna, van Gassen Koen L I, Zschocke Johannes, Fauth Christine, Mayr Johannes A, Sacher Michael, van Hasselt Peter M

Abstract excerpt

BACKGROUND: The combination of febrile illness-induced encephalopathy and rhabdomyolysis has thus far only been described in disorders that affect cellular energy status. In the absence of specific metabolic abnormalities, diagnosis can be challenging. OBJECTIVE: The objective of this study was to identify and characterise pathogenic variants in two individuals from unrelated families, both of whom presented...

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Identifiers

PMID: 30120216
DOI: 10.1136/jmedgenet-2018-105441

Genes

TRAPPC10

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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